Marfan Syndrome
Medically reviewed by Drugs.com. Last updated on May 6, 2024.
What is Marfan syndrome?
Marfan syndrome is a disorder that weakens the connective tissue in your body. Connective tissue gives strength and support to tendons, ligaments, blood vessels, and other parts of your body. Marfan syndrome keeps many of these parts of your body from being as strong as they should be. This can cause problems in your eyes, heart, blood vessels, and bones. Marfan syndrome is caused by a change in a gene that causes your connective tissues to become weak. One of your parents may pass this condition to you, but it is not always genetic.
What are the signs and symptoms of Marfan syndrome?
Signs and symptoms may happen right away or develop as you get older:
- Taller than average height, long arms, fingers, legs, and toes, and a long face
- Scoliosis (curved spine), flat feet, or breastbone curved inward or outward
- Eye problems, such as glaucoma, cataracts, or vision problems from a lens that moved out of place
- Stretch marks on your skin
- High and arched palate (roof of your mouth), and crowded teeth
- Back or leg pain, or headaches
- Chest pain or an irregular heartbeat from weakened heart valves
How is Marfan syndrome diagnosed?
Your healthcare provider will do a complete physical exam to check for signs of Marfan syndrome. Your provider will also ask about your health history and your family health history. You may be given contrast liquid before some of the following tests. Tell the healthcare provider if you have ever had an allergic reaction to contrast liquid.
- Blood tests give healthcare providers information about how your body is working.
- X-ray, CT, or MRI pictures may show problems caused by Marfan syndrome. Do not enter the MRI room with anything made of metal. Metal can cause serious injury. Tell the healthcare provider if you have any metal in or on your body.
- An echocardiogram is a type of ultrasound. Sound waves are used to show the structure and function of your heart.
- Telemetry is continuous monitoring of your heart rhythm. Sticky pads placed on your skin connect to an EKG machine that records your heart rhythm.
- An eye exam may include devices or lenses to check for eye problems.
How is Marfan syndrome treated?
Treatment is given to prevent damage to affected areas of your body. Your healthcare provider may want to monitor your condition over time. You may need to avoid activities that make your heart pump hard. You may need to avoid playing contact sports, such as football and hockey. Light physical activity and certain sports may be allowed, depending on your condition. You may also need any of the following:
- A back brace may help keep your back straight. Your provider will tell you when to wear it and for how long each day.
- Beta-blockers help your heart beat softer and slower. This may prevent damage to your heart and aorta. The aorta is the large blood vessel that carries blood from the heart and lungs to the body.
- Surgery may be needed to repair your heart valves, blood vessels, or bones. Your provider may also need to repair structures inside your eyes.
What should I know before I try to have children?
- Ask about genetic counseling. Genetic counseling can help you understand your chances of passing the condition to your baby. Ask your healthcare provider for more information on genetic counseling.
- Your provider will check your aorta for any widening. Widening may mean you have weakness in the wall of your aorta. Pregnancy may put a lot of strain on your heart and may worsen your condition. You will need to be monitored closely during your pregnancy.
Further information
- National Marfan Foundation
22 Manhasset Avenue
Port Washington , NY 11050
Phone: 1- 516 - 883-8712
Phone: 1- 800 - 862-7326
Web Address: www.marfan.org
Call your local emergency number (911 in the US) if:
- You have severe pain in your chest or abdomen.
- You have sudden shortness of breath.
When should I seek immediate care?
- You have sudden pain in your eyes and vision problems.
- You cannot control your urine or bowel movements.
When should I call my doctor?
- You have a fever.
- You are planning to have a child, or you are pregnant.
- You have pain in your hips and have problems walking.
- You have questions or concerns about your condition or care.
Care Agreement
You have the right to help plan your care. Learn about your health condition and how it may be treated. Discuss treatment options with your healthcare providers to decide what care you want to receive. You always have the right to refuse treatment. The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.© Copyright Merative 2024 Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes.
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